343 Matching Annotations
  1. Mar 2021
    1. Source Data

      AssayResult: 10.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 3.22

      StandardErrorMean: 2.28

      Comment: Exact values reported in “Source Data” file.

    2. Source Data

      AssayResult: 7.75

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.59

      StandardErrorMean: 1.83

      Comment: Exact values reported in “Source Data” file.

    3. Source Data

      AssayResult: 75.45

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 4.03

      StandardErrorMean: 2.85

      Comment: Exact values reported in “Source Data” file.

    4. Source Data

      AssayResult: 98.55

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 5.74

      StandardErrorMean: 4.06

      Comment: Exact values reported in “Source Data” file.

    5. Source Data

      AssayResult: 62.31

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 11.49

      StandardErrorMean: 8.13

      Comment: Exact values reported in “Source Data” file.

    6. Source Data

      AssayResult: 66.19

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 21.26

      StandardErrorMean: 15.03

      Comment: Exact values reported in “Source Data” file.

    7. Source Data

      AssayResult: 105.41

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.45

      StandardErrorMean: 6.68

      Comment: Exact values reported in “Source Data” file.

    8. Source Data

      AssayResult: 7.82

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 2.31

      StandardErrorMean: 1.64

      Comment: Exact values reported in “Source Data” file.

    9. Source Data

      AssayResult: 92.32

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.26

      StandardErrorMean: 1.6

      Comment: Exact values reported in “Source Data” file.

    10. Source Data

      AssayResult: 44.9

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 9.75

      StandardErrorMean: 6.89

      Comment: Exact values reported in “Source Data” file.

    11. Source Data

      AssayResult: 97.61

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 0.97

      StandardErrorMean: 0.68

      Comment: Exact values reported in “Source Data” file.

    12. Source Data

      AssayResult: 11.28

      AssayResultAssertion: Abnormal

      ReplicateCount: 2

      StandardDeviation: 1.24

      StandardErrorMean: 0.87

      Comment: Exact values reported in “Source Data” file.

    13. Source Data

      AssayResult: 86.67

      AssayResultAssertion: Not reported

      ReplicateCount: 2

      StandardDeviation: 2.24

      StandardErrorMean: 1.58

      Comment: Exact values reported in “Source Data” file.

    14. We, therefore, analyzed the effect of 48 PALB2 VUS (Fig. 2a, blue) and one synthetic missense variant (p.A1025R) (Fig. 2a, purple)29 on PALB2 function in HR.

      HGVS: NM_024675.3:c.1010T>C p.(L337S)

    1. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 59.3

      AssayResultAssertion: Indeterminate

      ReplicateCount: 30

      StandardErrorMean: 8.3

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

    2. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 28.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 13

      StandardErrorMean: 8.6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    3. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 45.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 5.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1).

    4. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 37.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 26

      StandardErrorMean: 3.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    5. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 23.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 33

      StandardErrorMean: 3.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    6. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 89.5

      AssayResultAssertion: Normal

      ReplicateCount: 29

      StandardErrorMean: 14.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    7. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 18

      StandardErrorMean: 0.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    8. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 1.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    9. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 14.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 2.5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    10. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 78.9

      AssayResultAssertion: Normal

      ReplicateCount: 38

      StandardErrorMean: 7.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    11. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 43.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 12.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    12. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 59.7

      AssayResultAssertion: Indeterminate

      ReplicateCount: 41

      StandardErrorMean: 6.3

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

    13. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 10.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 3.4

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    14. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 24

      StandardErrorMean: 0.3

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    15. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 11

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    16. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 1.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    17. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 10

      StandardErrorMean: 6.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    18. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 36

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    19. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 13.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 2.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    20. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 29

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    21. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 25

      StandardErrorMean: 0.2

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    22. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.6

      AssayResultAssertion: Normal

      ReplicateCount: 31

      StandardErrorMean: 16.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    23. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 0.7

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    24. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 12

      AssayResultAssertion: Abnormal

      ReplicateCount: 10

      StandardErrorMean: 2.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    25. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 102.4

      AssayResultAssertion: Normal

      ReplicateCount: 39

      StandardErrorMean: 15.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    26. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 47

      AssayResultAssertion: Indeterminate

      ReplicateCount: 10

      StandardErrorMean: 15.5

      Comment: This variant had a mix of multiple abnormalities: a partial loss of function of peak current (10-50% of wildtype) and a gain of function >10mV shift in activation voltage. Therefore it was considered to have inconclusive in vitro properties (neither normal nor abnormal in vitro function). (Personal communication: A. Glazer)

    27. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 114.7

      AssayResultAssertion: Normal

      ReplicateCount: 42

      StandardErrorMean: 15.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    28. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 36

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 5.9

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    29. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 121.4

      AssayResultAssertion: Normal

      ReplicateCount: 34

      StandardErrorMean: 13.2

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    30. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    31. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 29.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 13

      StandardErrorMean: 5.7

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    32. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 0.5

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    33. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 23

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    34. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 43

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    35. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 16

      AssayResultAssertion: Abnormal

      ReplicateCount: 26

      StandardErrorMean: 2.3

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    36. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 2.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 20

      StandardErrorMean: 2.1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    37. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 117.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 36

      StandardErrorMean: 11.7

      Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)

    38. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 21

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 5.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    39. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 38.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 27

      StandardErrorMean: 7.2

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    40. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    41. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 105.3

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 10.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    42. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 77.5

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 8.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    43. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 41.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 10.8

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    44. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 63.8

      AssayResultAssertion: Indeterminate

      ReplicateCount: 25

      StandardErrorMean: 10.1

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

    45. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.9

      AssayResultAssertion: Abnormal

      ReplicateCount: 12

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    46. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 68.1

      AssayResultAssertion: Indeterminate

      ReplicateCount: 18

      StandardErrorMean: 8.7

      Comment: This variant had mild loss of function (peak current >50% and <75% of wildtype), therefore it was considered inconclusive and neither abnormal nor normal in vitro function. (Personal communication: A. Glazer)

    47. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    48. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 11

      StandardErrorMean: 0.7

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    49. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 3.4

      AssayResultAssertion: Abnormal

      ReplicateCount: 22

      StandardErrorMean: 0.8

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    50. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 39

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    51. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.6

      AssayResultAssertion: Abnormal

      ReplicateCount: 25

      StandardErrorMean: 0.4

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    52. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 28.5

      AssayResultAssertion: Abnormal

      ReplicateCount: 21

      StandardErrorMean: 7.6

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    53. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 113.2

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 13.9

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    54. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0

      AssayResultAssertion: Abnormal

      ReplicateCount: 24

      StandardErrorMean: 0

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    55. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 1.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 67

      StandardErrorMean: 0.3

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    56. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    57. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 34.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 6.7

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    58. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 109.6

      AssayResultAssertion: Normal

      ReplicateCount: 11

      StandardErrorMean: 19.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    59. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 117.8

      AssayResultAssertion: Normal

      ReplicateCount: 15

      StandardErrorMean: 14.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    60. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 39

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 6.4

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    61. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 119.6

      AssayResultAssertion: Normal

      ReplicateCount: 22

      StandardErrorMean: 19.5

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    62. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 15

      StandardErrorMean: 0.2

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    63. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 32.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 5

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    64. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 89.4

      AssayResultAssertion: Normal

      ReplicateCount: 26

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    65. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 85.1

      AssayResultAssertion: Normal

      ReplicateCount: 35

      StandardErrorMean: 10.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    66. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 103.2

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    67. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 120.5

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 13.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    68. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 94.8

      AssayResultAssertion: Normal

      ReplicateCount: 33

      StandardErrorMean: 12.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    69. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 109.1

      AssayResultAssertion: Normal

      ReplicateCount: 26

      StandardErrorMean: 14.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    70. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 101

      AssayResultAssertion: Normal

      ReplicateCount: 41

      StandardErrorMean: 8.9

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    71. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 104.3

      AssayResultAssertion: Normal

      ReplicateCount: 30

      StandardErrorMean: 16.3

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    72. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 105.8

      AssayResultAssertion: Normal

      ReplicateCount: 36

      StandardErrorMean: 12.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    73. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 103.2

      AssayResultAssertion: Normal

      ReplicateCount: 37

      StandardErrorMean: 21.8

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    74. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 51.9

      AssayResultAssertion: Indeterminate

      ReplicateCount: 12

      StandardErrorMean: 18.8

      Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It had unmeasured late current, but has been previously reported to have high late current (GOF feature). Therefore it was considered to meet neither the abnormal or normal functional parameter. (Personal communication: A. Glazer)

    75. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 64.8

      AssayResultAssertion: Abnormal

      ReplicateCount: 31

      StandardErrorMean: 11.1

      Comment: This variant had a mild loss of function in peak current (50-75% of wildtype). It also had a very large increase in recovery from inactivation (>10-fold slower). Therefore it was considered to have a partial loss of function (in vitro function consistent with Brugada Syndrome). (Personal communication: A. Glazer)

    76. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 2.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)

    77. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 114.3

      AssayResultAssertion: Abnormal

      ReplicateCount: 16

      StandardErrorMean: 22.4

      Comment: This variant had normal peak current and increased late current (>1% of peak), therefore it was considered a GOF variant (in vitro features consistent with Long QT Syndrome Type 3). (Personal communication: A. Glazer)

    78. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 23.2

      AssayResultAssertion: Abnormal

      ReplicateCount: 14

      StandardErrorMean: 7.1

      Comment: This variant had partial loss of function of peak current (10-50% of wildtype) and a >10mV loss of function shift in Vhalf activation, therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    79. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 113

      AssayResultAssertion: Normal

      ReplicateCount: 17

      StandardErrorMean: 28.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    80. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.1

      AssayResultAssertion: Abnormal

      ReplicateCount: 19

      StandardErrorMean: 0.1

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1. (Personal communication: A. Glazer)

    81. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 86.7

      AssayResultAssertion: Normal

      ReplicateCount: 28

      StandardErrorMean: 8.6

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    82. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 0.7

      AssayResultAssertion: Abnormal

      ReplicateCount: 17

      StandardErrorMean: 0.6

      Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)

    83. Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 115.6

      AssayResultAssertion: Normal

      ReplicateCount: 19

      StandardErrorMean: 24.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

    84. we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.1003T>C p.(Cys335Arg)

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  2. Feb 2021
    1. Supplemental material

      AssayResult: 100

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    2. Supplemental material

      AssayResult: 20.5

      AssayResultAssertion: Normal

      Comment: See Table S3 for details

    3. Supplemental material

      AssayResult: 6.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    4. Supplemental material

      AssayResult: 6.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    5. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    6. Supplemental material

      AssayResult: 7.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    7. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    8. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    9. Supplemental material

      AssayResult: 5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    10. Supplemental material

      AssayResult: 4.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    11. Supplemental material

      AssayResult: 4.2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    12. Supplemental material

      AssayResult: 4.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    13. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    14. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    15. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    16. Supplemental material

      AssayResult: 6.7

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    17. Supplemental material

      AssayResult: 10.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    18. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    19. Supplemental material

      AssayResult: 4.9

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    20. Supplemental material

      AssayResult: 8.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    21. Supplemental material

      AssayResult: 4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    22. Supplemental material

      AssayResult: 6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    23. Supplemental material

      AssayResult: 5.4

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    24. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    25. Supplemental material

      AssayResult: 7.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    26. Supplemental material

      AssayResult: 5.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    27. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    28. Supplemental material

      AssayResult: 2

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    29. Supplemental material

      AssayResult: 2.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    30. Supplemental material

      AssayResult: 3.1

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    31. Supplemental material

      AssayResult: 5.6

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    32. Supplemental material

      AssayResult: 3.5

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    33. Supplemental material

      AssayResult: 5.8

      AssayResultAssertion: Abnormal

      Comment: See Table S2 for details

    34. We analysed a total of 82 blood samples derived from 77 individuals (online supplemental table 3). These 77 individuals corresponded either to new index cases suspected to harbour a pathogenic TP53 variant or to relatives of index cases harbouring TP53 variants.

      HGVS: NM_000546.5:c.-117G>T

  3. Sep 2020
  4. Jan 2020
  5. Dec 2019
  6. Oct 2019
  7. Sep 2019